Blog - INTERNET MÉDICA

Síndrome de Wiskott-Aldrich Online (Wiskott-Aldrich Syndrome)

Por Paulo Leite 29/04/2019

¨A síndrome de Wiskott Aldrich (WAS) é uma doença primária de imunodeficiência ligada ao X que resulta em infecções recorrentes, eczema e microtrombocitopenia. Em sua forma clássica, deficiência imunológica combinada significativa, complicações autoimunes e risco de malignidade hematológica exigem correção precoce com transplante de células-tronco ou terapia gênica. Uma forma mais leve, a trombocitopenia ligada ao X (XLT), compartilha um risco semelhante de sangramento da trombocitopenia, mas não está associada a outras características clínicas significativas e é geralmente administrada conservadoramente.¨

■ How I manage patients with Wiskott Aldrich syndrome

E Rivers, A Worth, A J Thrasher, S O Burns

British Journal of Haematology march 2019

https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.15831

■ Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult

Emma C. Morris, Thomas Fox, Ronjon Chakraverty et al

Blood. 2017 Sep 14; 130(11): 1327–133

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813727/

■ Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation

Lucia Sereni, Maria Carmina Castiello, Francesco Marangoni et al

J Allergy Clin Immunol. 2018 Oct; 142(4): 1272–1284

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078823/

■ Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells

Pamela P. Lee, Damián Lobato-Márquez, Nayani Pramanik et al

Nat Commun. 2017; 8: 1576.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5691069/

■ A risk factor analysis of outcomes aftere unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome

Zhanna Shekhovtsova, Carmem Bonfim, Annalisa Ruggeri, et al

Haematologica. 2017 Jun; 102(6): 1112–1119

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451344/

■ Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene

Takashi Ohya, Masakatsu Yanagimachi, Kentaro Iwasawa et al

World J Gastroenterol. 2017 Dec 28; 23(48): 8544–8552

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752714/

■ Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells

Nikolai V. Kuznetsov, Bader Almuzzaini, Joanna S. Kritikou et al

Genome Med. 2017; 9: 91

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5660450/

■ Outcome following gene therapy in patients with severe Wiskott-Aldrich syndrome

Salima Hacein-Bey Abina, H. Bobby Gaspar, Johanna

JAMA. 2015, vol 313(15): 1550–1563

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942841/

■ Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome

Robert Sokolic, Neal Oden, Fabio Candotti

Front Pediatr. 2015; 3: 49

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450723/

■ Wiskott-Aldrich syndrome (WAS): a case report in Mauritius and review

K Ramphul, S Ramjuttun, V Poorun

International Journal of Pediactics 2015, vol 3 (3.1)

http://ijp.mums.ac.ir/article_4260.html

■ Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments

D Buchbinder, D J Nugent, A H Fillipovich

Appl Clin Genet 2014, vol 7: 55-66

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4012343/

■ Síndrome de Wikott-Aldrich: relato de caso

M S de Souza, S M M Amaral

Residencia Pediátrica 2011, vol 1 (2)

http://residenciapediatrica.com.br/detalhes/18/sindrome-de-wiskott-aldrich–relato-de-caso

■ Síndrome de Wiskott-Aldrich

I G Gonzalez, B T C Carvalho

Rev Bras Alerg Immunopatol 2011, vol 34 (2)

http://www.asbai.org.br/revistas/vol342/sindrome_34_2-16.pdf

■ Long-term outcomes and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

Daniele Moratto, Silvia Giliani, Carmem Bonfim et al

Blood. 2011 Aug 11; 118(6): 1675–1684

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156052/

■ Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report

Kostas N Syrigos, Nektaria Makrilia, Jeffrey Neidhart et al

Ital J Pediatr. 2011; 37: 42

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179709/

■ Stem-cell gene therapy for the Wiskott-Aldrich syndrome

Kaan Boztug, Manfred Schmidt, Adrian Schwarzer et al

N Engl J Med. 2010 Nov 11; 363(20): 1918–1927

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064520/

■ Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment

Sung-Yun Pai, Luigi D. Notarangelo

Immunol Allergy Clin North Am. 2010 May; 30(2): 179–194.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930258/

■ Dr Paulo Fernando Leite

Cardiologia/Prevenção Cardiovascular

Estratificação de Risco Cardiovascular

Novo endereço:

Consultório: Rua Padre Rolim 815/sala 815

Tel: 33245518 (Consulta Particular/Unimed)

– Centro Médico Unimed BH/Contagem/Pedro I

Belo Horizonte/MG/Brasil

CRMMG: 7026

Email: pfleite1873@gmail.com

Síndrome Mão-Pé-Boca Online (Hand, Foot and Mouth Syndrome)

Por Paulo Leite 28/04/2019

¨A Síndrome Mão-Pé-Boca (SMPB) é uma doença eruptiva viral, mais frequentemente causada pelo enterovírus Coxsackie A16, podendo ser causada pelos vírus Coxsackie A5, A7, A9, A10, B 2 e B5 e enterovírus 71. A infecção é altamente contagiosa e geralmente ocorre como evento isolado, porém, epidemias podem ocorrer regularmente, como um surto na China em 2003 causado pelo Echovirus 19. Na maioria dos casos a transmissão é fecal-oral, menos frequentemente por via respiratória. Em geral, a doença é leve, com pródromos de febrícula, adinamia e anorexia. Após um período de incubação de 3-6 dias, surgem úlceras na mucosa oral, língua, palato e úvula. Logo após se iniciam máculas eritematosas que progridem para vesículas em faces plantares e interdigitais das mãos e pés. As lesões podem ser assimétricas, dolorosas e pruriginosas. Em algumas crianças este padrão pode ser observado no tronco, coxas e nádegas. A implantação viral inicial na mucosa bucal e ileal é seguida por disseminação para os nódulos linfáticos em 24 horas. Uma viremia rapidamente se segue, com difusão para a mucosa oral e pele. No sétimo dia, os níveis de anticorpos aumentam neutralizando os vírus que são eliminados. O vírus pode estar presentes nas fezes do paciente por um mês. A exclusão do paciente da escola, geralmente não é necessária. Para reduzir a propagação viral, não romper as vesículas. O tratamento geralmente é sintomático¨

■ The effect of school closure on hand, foot, and mouth disease transmission in Singapore: a modeling approach

Y Chen, H Badarudddin, V J Lee

The American Journal of Tropical Medicine and Hygiene dec 2018

http://www.ajtmh.org/content/journals/10.4269/ajtmh.18-0099

■ Hand, foot and mouth disease and herpangina caused by enterovirus A71 infections: a review of enterovirus A71 molecular epidemiology, pathogenesis, and current vaccine development

Chang, Yu-Kang, Chen, Kou-Huang and Chen, Kow-Tong

Rev. Inst. Med. trop. S. Paulo, 2018, vol.60

https://www .ncbi.nlm.nih.gov/pmc/articles/PMC6223252/

■ Estimating the incubation period of hand, foot and mouth disease for children in different age groups

Zhongzhou Yang, Qiqi Zhang, Benjamin J. Cowling, Eric H. Y. Lau

Sci Rep. 2017; 7: 16464

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705633/

■ The epidemiological of hand, foot and mouth disease in Asia: a systematic review and analysis

W M Koh, T Bogich, K Siegel et al

The Pediatric Infectious Disease Journal 2016, vol 35 (10):e285-e300

https://journals.lww.com/pidj/Fulltext/2016/10000/The_Epidemiology_of_Hand,_Foot_and_Mouth_Disease.3.aspx

■ A literature review and case report of hand, foot and mouth disease in an immunocompetent adult

C Omaña-Cepeda, A Martinez-Valverde, M M Sabater-Recolons

BMC Res Notes 2016: vol 9: 165

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791924/

■ Is a multivalente hand, foot, and mouth disease vaccine feasible?

Michel Klein, Pele Chong

Hum Vaccin Immunother. 2015 Nov; 11(11): 2688–2704

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4685682/

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0036-46652018005000402&lng=en&nrm=iso

■ Outbreak of hand, foot and mouth disease with onychomadesis caused by Coxsackie vírus A16 in Granada

E N Moreno, D A López, R J Jiménez et al

Anales de Pediatria 2015, vol 82 (4)

https://www.analesdepediatria.org/en-outbreak-hand-foot-mouth-disease-articulo-S2341287915000447

■ Síndrome mão-pé-boca: relato de caso

M A S Cristovam, N O Osak

Revista do Médico Residente 2014, vol 16 (1)

http://www.crmpr.org.br/publicacoes/cientificas/index.php/revista-do-medico-residente/article/view/530/515

■ Hand-foot-and-mouth disease epidemiological status and relationship with meteorological variables in Guanghou, Southern Chine, 2018-2012

Li, Tiegang et al

Rev. Inst. Med. Trop. São Paulo, Dec 2014, vol.56, no.6, p.533-53

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0036-46652014000600533&lng=en&nrm=iso&tlng=en

■ Coxsackievirus A6-induced hand-foot-mouth disease

C L Stewart, E Y Chu, C E Introcaso et al

JAMA Dermatol 2013, vol 149 (12): 1419-1421

https://jamanetwork.com/journals/jamadermatology/fullarticle/1764024

■ Hand, foot, and mouth syndrome in an immunocompetent adult: a case report

Bárbara Flor de Lima, João Silva, Ana Catarina Rodrigues, Ana Grilo, Nuno Riso, Manuel Vaz Riscado

BMC Res Notes. 2013; 6: 441

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819262/

■ Doença mão-pé-boca no adulto – a propósito de um caso clínico

A Dantas, M J Oliveira, O Lourenço, P B Coelho

Rev Port Med Geral Fam 2013, vol 29 (1)

http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S2182-51732013000100008

■ Coxsackevirus A6 and hand, foot, and mouth Disease: Three case reports of familial child-to-immunocompetent adult transmission and a literature review

K Kaminska, G Martinetti, R Lucchini et al

Case Rep Dermatol 2013, vol 5: 203-209

https://www.karger.com/Article/FullText/354533

■ Miosite e rabdomiólise na doença mão-pé-boca na infância.

Vaisbich, Maria Helena, Tozze, Roberto and Baldacci, Evandro Roberto

Rev. paul. pediatr., Mar 2010, vol.28, no.1, p.109-114

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822010000100017&lng=en&nrm=iso

■ Hand-foot syndrome with scleroderma-like change induced by the oral capecitabine: a case report

Sehe-Dong Lee, Hye-Jeong Kim, Seung-Jae Hwang et al

Korean J Intern Med. 2007 Jun; 22(2): 109–112

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687614/

■ Echovirus 4 associated to hand, foot and mouth disease.